Autosomal recessive juvenile parkinsonism

@article{Saito2000AutosomalRJ,
  title={Autosomal recessive juvenile parkinsonism},
  author={Masaaki Saito and Mieko Maruyama and Ken Ikeuchi and Hiroshi Kondo and Atsushi Ishikawa and Tatsuhiko Yuasa and Shoji Tsuji},
  journal={Brain and Development},
  year={2000},
  volume={22},
  pages={115-117}
}

Parkin genetics: one model for Parkinson's disease.

Comparing and contrast PD and AR-JP is compared and compared and the implications of recent data about parkin's genomic organization, regulation and function are discussed.

Clinico-pathological study of a case of familial parkinsonism with striatal degeneration

It seems that this familial bilateral striatal degeneration is a new variant of familial parkinsonism, similar to those of X-linked dystonia parkinsonist (Lubag), which is slowly progressive and responsive to levodopa therapy to a variable degree.

PINK1 mutation in Taiwanese early-onset parkinsonism

The incidence of carrying PINK1 mutations in the present cohort of Taiwanese EOPD patients was low, accounting for 2/39 (5.1%) in familial cases, and 2/99 (2 %) in sporadic cases.

Parkin and Parkinson's disease

This review article evaluates the developments in this area published since 1 February 2000 and concludes that many studies still need to be performed to elucidate the molecular mechanism of the selective nigral neurodegeneration in this form of familial Parkinson's disease, it will not be too long before this is accomplished.

Estudio de la fosforilación de parkina y sus implicaciones en la enfermedad de Parkinson

Regulating the phosphorylation status of parkin has beneficial effects in reducing parkin aggregation and concomitant inactivation, and these findings may help in the design of novel therapeutic strategies against PD.

Levodopa responsiveness in disorders with parkinsonism: A review of the literature

Magnitude and duration of response to LD and tolerability may be useful features in distinguishing PD, MSA, PSP, and CBD and efforts should be directed toward better defining LR when used for diagnostic purposes and in scientific publications.

Pathological proteins in Parkinson’s disease

Increasing numbers of experiments suggest that neurotoxins might interact with α-synuclein or other Parkinson-related proteins to contribute to the pathophysiology of PD.

Cyclin-Dependent Kinase 5 – An Emerging Player in Parkinson’s Disease Pathophysiology

There is an urgent need to elucidate the cellular mechanism underlying PD pathology for the development of more effective treatments and extensive research aimed at elucidating the mechanisms implicated in the degeneration of these neurons.

Parkin expression in the developing mouse.

VMAT2-Deficient Mice Display Nigral and Extranigral Pathology and Motor and Nonmotor Symptoms of Parkinson's Disease

It is demonstrated that reduced vesicular storage of monoamines and the resulting disruption of the cytosolic environment may play a role in the pathogenesis of parkinsonian symptoms and neurodegeneration.

References

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.

Novel mutations, pseudo‐dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism

Although a wide range of ages at onset was observed, there was no correlation between age at onset and genotype, and multiple mutant alleles were identified in 1 family.

A susceptibility locus for Parkinson's disease maps to chromosome 2p13

A different genetic locus that appears to be involved in the development of parkinsonism closely resembling sporadic PD is described including a similar mean age of onset (59 years in the families, 59.7 years in sporadic PD; ref. 12).

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism

The similarity of clinical findings in these patients, and the differences from other types of parkinsonism, indicates that AR-JP is a distinct clinical entity.

Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.

A detailed genetic map of the linked region and the position of the manganese superoxide dismutase gene (SOD2) is constructed and the apparent homozygosity for null alleles at D6S955 in one family suggested a deletion and finer localization of the JP locus.

Familial juvenile parkinsonism

We describe a family with juvenile-onset parkinsonism, which improved following sleep. Four of the five siblings in this family developed a similar onset of parkinsonism at an early age, and the

Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals

The findings indicate that loss of function of the Parkin protein results in the clinical phenotype of AR‐JP and that subregions between introns 2 and 5 of the parkin gene are mutational hot spots.

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.

Strong evidence is discovered for the localization of the AR-JP gene at chromosome 6q25, including the SOD2 locus, by linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2).

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.

Point Mutations (Thr240Arg and Ala311Stop) in theParkinGene

Two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families are identified, the first report on point mutations for the parkIn gene.